Canonical Allele Identifier: CA386123008

Gene: KITLG

Linked Data

• ClinVar Variation Id: 1693554
• ClinVar RCV Id: RCV002260949
• dbSNP Id: rs1870699640
• gnomAD v3: 12-88545787-G-A
• gnomAD v4: 12-88545787-G-A
• MyVariant Identifiers: chr12:g.88939564G>A (hg19) ; chr12:g.88545787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.88545787G>A , CM000674.2:g.88545787G>A	GRCh38
NC_000012.11:g.88939564G>A , CM000674.1:g.88939564G>A	GRCh37
NC_000012.10:g.87463695G>A	NCBI36
NG_012098.1:g.39675C>T
NG_012098.2:g.39675C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347404.10:c.94C>T	ENSP00000054216.5:p.Arg32Cys
ENST00000644744.1:c.94C>T MANE Select	ENSP00000495951.1:p.Arg32Cys
ENST00000646633.1:c.*95C>T	ENSP00000494139.1:n.*95C>T
ENST00000228280.9:c.94C>T	ENSP00000228280.5:p.Arg32Cys
ENST00000347404.9:c.94C>T	ENSP00000054216.5:p.Arg32Cys
ENST00000357116.4:c.-48+34477C>T	ENSP00000474021.1:n.-48+34477C>T
ENST00000552044.1:c.-60C>T	ENSP00000475042.1:n.-60C>T
NM_000899.4:c.94C>T	NP_000890.1:p.Arg32Cys
NM_003994.5:c.94C>T	NP_003985.2:p.Arg32Cys
NM_000899.5:c.94C>T MANE Select	NP_000890.1:p.Arg32Cys
NM_003994.6:c.94C>T	NP_003985.2:p.Arg32Cys